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Barth syndrome occurs when a person is born with a mutated, or abnormal, TAZ1 (or G4.5) gene. This abnormal gene is located on the X chromosome, which is a sex-determining chromosome. Males have one X and one Y chromosome, while females have two X chromosomes.
Wiki User
∙ 14y ago
Wiki User
∙ 15y agoIt is a mutation in the TAZ gene, in the X chromozome.
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How many people have Barth Syndrome in the US?
People, mostly males, has barth syndrome. Barth Syndrome affected 200,000 male infants.
The mitochondria do not function properly in people with Barth Syndrome because the mutated gene alerts or inhabits the production of what biomolecule?
The mutated gene in Barth syndrome is tafazzin, and when this gene is defective it causes a loss or change in the biomolecule called cardiolipin. Cardiolipin is a phospholipid found in the mitochondria. Matthew J. Toth Science Director Barth Syndrome Foundation, Inc.
What is the genetic trace of 'CHARGE' syndrome?
Charge syndrome is genetic. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. This syndrome is a common cause of congenital anomalies affecting several tissues in nonrandom fashion. Some research has been shown that detected mutations are in the gene CHD7 in 10 of 17 individuals with CHARGE syndrome that didn't have microdeletions, accounting for the disease in most affected individuals.
What causes Alagille syndrome?
Alagille syndrome is an inherited disorder; in which a person may have fewer than normal the number of small bile ducts inside the liver. Most people with Alagille have a defect in the JAG1(Jagged 1/drosophilia) gene that leds to Alagille syndrome. A child has a fifty percent chance of contraction Alagille syndrome from an affected parent.
Who can be affected by premenstrual syndrome?
Anyone who has started their periode
How many people have Barth Syndrome in the US?
People, mostly males, has barth syndrome. Barth Syndrome affected 200,000 male infants.
The mitochondria do not function properly in people with Barth Syndrome because the mutated gene alerts or inhabits the production of what biomolecule?
The mutated gene in Barth syndrome is tafazzin, and when this gene is defective it causes a loss or change in the biomolecule called cardiolipin. Cardiolipin is a phospholipid found in the mitochondria. Matthew J. Toth Science Director Barth Syndrome Foundation, Inc.
When was Gene Barth born?
Gene Barth was born in 1930.
When did Gene Barth die?
Gene Barth died in 1991.
What are three special interest groups that focus on barth syndrome?
There appears to be only one special interest group that has its focus on Barth syndrome--Barth Syndrome Foundation, Inc. The website for this non-profit organization is: www.barthsyndrome.org . There are several international affiliates of the BSF: The Barth Syndrome Trust (UK & Europe), Barth Syndrome Foundation of Canada, and Barth Trust of South Africa. Sincerely, Matt Toth
What gene or chromosome is affected by down syndrome?
Chromosome 21 is tripled in Down syndrome.
How did Barth syndrome get its name?
After the researcher Dr. Peter Barth who established the inheritance of this disease.
What gene is affected in prader willi syndrome?
if you mean chromosome its the 15th......
What does Barth syndrome mean?
It is a genetically-linked cardiac disease
How do you get barth syndrome?
Barth's Syndrome is not something you get from a virus or a bacteria. It is genetic, on the X chromozome. It means that a women is mostly only a carrier, and when a carrier woman marries a amn, 50% of their boys will have Barth's Syndrome and 50% of their girls will be carriers. All the other boys and girls will be healthy. Have good health, harhanegev@gmail.com
If you have Andersen's syndrome what are the chances that your two children will have it?
Andersen's syndrome is usually inherited in an autosomal dominant fashion. This means that EACH child of a person with Andersen's syndrome will have a 50% chance of inheriting the gene associated with the syndrome. However, not all people who inherit the gene will show symptoms of the syndrome. Children of people affected with Andersen's syndrome should be evaluated by a qualified physician to determine risk.
What chromosome number is affected in Lowe syndrome?
Lowe syndrome is caused by a mutated gene on the X sex chromosome. Because it is X-linked, it occurs almost exclusively in males.
